Extended Data Fig. 8: Phenotypic and marginal distributions for diplotype combinations. | Nature Genetics

Extended Data Fig. 8: Phenotypic and marginal distributions for diplotype combinations.

From: Insights into the genetic architecture of the human face

Extended Data Fig. 8

For a random SNP pairing (a) and each significant epistasis pair (b–d), boxplots are plotted to visualize the epistatic effect on the phenotype. The marginal phenotypic medians of the singular genotypes (non-shaded boxplots) were used to calculate and visualize the predicted diplotype phenotypic distribution that would occur if the two genotypes were acting alone. The median phenotype was also calculated for each diplotype as the average of the marginal medians of the singular genotypes (blue dashed lines on the colored plots). This median was compared to the observed medians of the diplotypes (solid black lines; colored boxplots) via Mood’s Median test with one degree of freedom. Log-transformed P values were used to color boxplots if there was a significant (P < 0.05; log(P) > 1.30) difference between the expected phenotype of the combined genotype and observed diplotype. Boxplots plot the first and third quartiles, with a dark black line representing the median. Whiskers extend to the largest and smallest values no further than 1.5 × the inter-quartile range from the first and third quartiles, respectively.

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